Abstract:
Background. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by
periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin as a result
of various mutations within MEFV gene, some causing very severe cases, while others may have milder
symptoms Objective of the study. To report the case of a family in which 5 members were confirmed
genetically with mutations characteristic for FMF out of which 4 displayed similar symptoms. The 4
members displaying signs are the father and the 3 out of 6 siblings(2 males+ 1 female) Material and
Methods. Disease history and results of genetic testing of the family members Results. The main
presenting complaint in all members is the recurrent abdominal pain variably followed by cramps and
flatulence, with/without diarrhea which manifest as attacks for 2-3 days a month. Symptomatic disease
onset varied from 9 to 45 y.o., 3 members have left knee arthritis, 4 members have pleuritic chest pain,
one has erythema nodosum in both shins and one member is asymptomatic. The father tested genetically
as follows FMF-V726A carrier; FMF-E148Q homozygote. and all siblings FMF-V726A heterozygote;
FMF-E148Q heterozygote. 4 patients manage to control the disease with diet and colchicine, and the
asymptomatic one doesn't use colchicine because of breastfeeding period. Conclusion. Although
traditionally fever is a considered a hallmark of FMF, with the discovery of genetic mutations, we can
confirm a greater variety of clinical presentation, not all cases presenting with all classical symptoms.
even-though all siblings have the same mutation they have different symptoms.
